Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM980154)
  • known disease mutation: rs3028 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:108204652T>CN/A show variant in all transcripts   IGV
HGNC symbol C11orf65
Ensembl transcript ID ENST00000525729
Genbank transcript ID N/A
UniProt peptide Q8NCR3
alteration type single base exchange
alteration region intron
DNA changes g.133607A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121434218
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs3028 (pathogenic for Ataxia-telangiectasia without immunodeficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980154)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980154)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980154)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.6251
4.7821
(flanking)-0.5810.875
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased133616wt: 0.24 / mu: 0.32wt: CTAAATTCTTAAGTTTAGTAATTGGCTGGTCTGCTGGAATA
mu: CTAAATTCTTAGGTTTAGTAATTGGCTGGTCTGCTGGAATA		 gtaa|TTGG
Acc gained1336060.52mu: ACAACATCTTCTAAATTCTTAGGTTTAGTAATTGGCTGGTC ctta|GGTT
distance from splice site 24854
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features no protein features affected
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 71 / 71
chromosome 11
strand -1
last intron/exon boundary 711
theoretical NMD boundary in CDS 590
length of CDS 741
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 133607
chromosomal position
(for ins/del: last normal base / first normal base)		 108204652
original gDNA sequence snippet CAACATCTTCTAAATTCTTAAGTTTAGTAATTGGCTGGTCT
altered gDNA sequence snippet CAACATCTTCTAAATTCTTAGGTTTAGTAATTGGCTGGTCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MPWKEESEFT KQDKAARVIQ QAWKSFLVKF PPDIYYKIFT HRPIEDLCAN SPRNYAKLPA
KHTSHNKNDH LQEEDHSGWY HRIENNGWRP VSDTFWLSTD GMVVEDKKES EFHFSKLKRR
QDLEKKRKLR KIEWMRQMYY SGSLEAKSTH HETLGLIHTA TKGLIRAFED GGIDSVMEWE
VDEVLNWTNT LNFDEYIASW KEIATSNSSA NFKGIFFRIL FSIKMEYEEF LSSPTPANVN
TILPQW*
mutated AA sequence N/A
speed 0.92 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project